Literature DB >> 8597818

Griscelli syndrome: report of three cases.

S Göğüş1, M Topçu, T Küçükali, Z Akçören, I Berkel, F Ersoy, M Günay, I Saatçi.   

Abstract

The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.

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Year:  1995        PMID: 8597818     DOI: 10.3109/15513819509026966

Source DB:  PubMed          Journal:  Pediatr Pathol Lab Med        ISSN: 1077-1042


  3 in total

1.  Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.

Authors:  Ozden Sanal; Fúgen Ersoy; Ilhan Tezcan; Ayşe Metin; Leman Yel; Gaël Ménasché; Aytemiz Gürgey; Izzet Berkel; Geneviève de Saint Basile
Journal:  J Clin Immunol       Date:  2002-07       Impact factor: 8.317

2.  Griscelli syndrome.

Authors:  Sanjeev Rath; Vivek Jain; R K Marwaha; Amita Trehan; L S Rajesh; Vijay Kumar
Journal:  Indian J Pediatr       Date:  2004-02       Impact factor: 1.967

3.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Authors:  Yair Anikster; Marjan Huizing; Paul D Anderson; Diana L Fitzpatrick; Aharon Klar; Eva Gross-Kieselstein; Yackov Berkun; Gila Shazberg; William A Gahl; Haggit Hurvitz
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

  3 in total

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